Killam Seminar Series: Personalized Medicine and a Quest for Better Therapies to Treat CACNA1A-Related Epilepsy
Supported by the generosity of the Killam Trusts, The Neuro's Killam Seminar Series invites outstanding guest speakers whose research is of interest to the scientific community at The Neuro and 黑料不打烊 University.
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Elsa Rossignol
Personalized Medicine and a Quest for Better Therapies to Treat CACNA1A-Related Epilepsy
Elsa Rossignol is a pediatric neurologist specialized in neurogenetics, with a focus on the genetic causes underlying neurodevelopmental disorders such as epilepsy, autism, and intellectual deficiency. Her laboratory pursues two main lines of research to investigate these conditions. First, her team examines the molecular basis of severe childhood epileptic disorders using whole-genome sequencing in cohorts of patients with various seizure disorders. In parallel, they use genetic mouse models of these disorders to explore how mutations in specific genes impact neuronal development or function, leading to epilepsy. Dr. Rossignol's research is particularly focused on the development of GABAergic interneurons鈥攂rain inhibitory neurons鈥攁nd their role in regulating seizure generation and cognitive functions. Her team employs targeted genetic ablation strategies to selectively remove genes of interest in specific subtypes of interneurons. The consequences of these manipulations are studied using a combination of in vivo EEG recordings, in vitro physiological recordings, and immunohistochemical techniques. By integrating basic science and clinical approaches, Dr. Rossignol's research aims to illuminate the mechanisms underlying severe epileptic syndromes and potentially pave the way for new therapeutic strategies for affected patients.